Bruch’s membrane abnormalities in PRDM5-related brittle cornea syndrome

Conclusions:
PDRM5-related disease is known to affect the cornea, skin and joints. Here we demonstrate, to the best of our knowledge for the first time, that PRDM5 localizes not only in the human cornea, but is also widely expressed in the retina. Our findings suggest that ECM abnormalities in PRDM5-associated disease are more widespread than previously reported.

Source: Orphanet Journal of Rare Diseases - November 11, 2015 Category: Internal Medicine Authors: Louise PorterRoberto Gallego-PinazoCatherine KeelingMartyna KamieniorzNicoletta ZoppiMarina ColombiCecilia GiuntaRichard BonshekForbes MansonGraeme Black Source Type: research